MCID: ECT023
MIFTS: 15

Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

MalaCards integrated aliases for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

Name: Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 57 53
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 59
Christianson-Fourie Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hidrotic ectodermal dysplasia, christianson-fourie type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ectodermal dysplasia, hidrotic, christianson-fourie type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601375
MESH via Orphanet 45 C536180
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C1832411
Orphanet 59 ORPHA1808
MedGen 42 C1832411

Summaries for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1808DefinitionHidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type, is also known as hidrotic ectodermal dysplasia, christianson-fourie type. Affiliated tissues include skin, and related phenotypes are nail dystrophy and sparse scalp hair

More information from OMIM: 601375

Related Diseases for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Symptoms & Phenotypes for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Human phenotypes related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008404
2 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
3 sparse eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000653
4 absent eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002223
5 onychogryposis of toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0008401
6 sparse axillary hair 59 32 frequent (33%) Frequent (79-30%) HP:0002215
7 sparse pubic hair 59 32 frequent (33%) Frequent (79-30%) HP:0002225
8 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
9 abnormality of the nail 59 Very frequent (99-80%)
10 abnormality of the hair 59 Very frequent (99-80%)
11 bradycardia 32 HP:0001662
12 hidrotic ectodermal dysplasia 32 HP:0007529
13 fair hair 32 HP:0002286
14 onychogryposis 32 HP:0001805
15 short eyelashes 32 HP:0010764
16 paroxysmal supraventricular tachycardia 32 HP:0004763

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
bradycardia
episodic supraventricular tachycardia

Skin:
normal sweating
no skin defects

Nails:
dystrophic thickened nails
unattached distal half of nails

Teeth:
normal teeth

Hair:
absent eyebrows
short, thin, sparse, pale scalp hair
short, sparse eyelashes
sparse axillary and pubic hair

Clinical features from OMIM:

601375

Drugs & Therapeutics for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Genetic Tests for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Anatomical Context for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

MalaCards organs/tissues related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

41
Skin

Publications for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Articles related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

# Title Authors PMID Year
1
Family with autosomal dominant hidrotic ectodermal dysplasia: a previously unrecognised syndrome? 8
8826433 1996

Variations for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Expression for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Search GEO for disease gene expression data for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type.

Pathways for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

GO Terms for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Sources for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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